日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden

UBA1 突变负荷广泛范围内 VEXAS 综合征的临床表现

Anderson, Meghan; Ercelen, Defne; Richardson, Ashley; Kim, Jung; Torene, Rebecca I; Sirenko, Maria; Haley, Jeremy S; Cook, Adam; Hill, Wesley; Dove, James; Retterer, Kyle; Carroll, Eitan; Carey, David J; Asgari, Samira; Stewart, Douglas R; Beck, David B

Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts

在两个独立的队列中检验多基因评分对多种性状解释脑瘫的性能

Thomas, Jodi T; Berry, Alexander S F; Oetjens, Matthew T; Berry, Jesia G; MacLennan, Alastair H; Gordon, Scott D; Hale, Andrew T; Olsen, Catherine M; Whiteman, David C; Torene, Rebecca I; Ledbetter, David H; Martin, Nicholas G; van Eyk, Clare L; Gecz, Jozef; Myers, Scott M; Mitchell, Brittany L; Corbett, Mark A

Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes

Multiscore 是一款由人工智能和真实世界临床数据驱动的基因排序工具,在近 10,000 个外显子组和基因组中显示出对孟德尔遗传病分子诊断的高灵敏度。

Ustach, Vincent D; Guillen Sacoto, Maria J; McGee, Stephen; Gainullin, Vladimir G; Arvai, Kevin; Begtrup, Amber; Facio, Flavia M; Greenberg, Matthew; Guðbjartsson, Hákon; McWalter, Kirsty; Millán, Francisca; Monaghan, Kristin; Retterer, Kyle; Richard, Gabriele; Topaz, Nadav; Torene, Rebecca; Johnson, Britt; Laurent, Timothy

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

利用基因组测序扩大新生儿筛查范围,以便及早发现可干预的疾病

Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M; Suchy, Sharon F; Begtrup, Amber; Langley, Katherine G; Hernan, Rebecca; Amendola, Laura M; Boyd, Brenna M; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L; Coffey, Alison J; Devaney, Joseph M; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S; Hu, Zhanzhi; Jeanne, Médéric; Jin, Guanjun; Johnson, D Aaron; Kavus, Haluk; Leibel, Rudolph L; Lobritto, Steven J; McGee, Stephen; Milner, Joshua D; McWalter, Kirsty; Monaghan, Kristin G; Orange, Jordan S; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J; Silver, Eric S; Strom, Samuel; Torene, Rebecca I; Williams, Olatundun; Ustach, Vincent D; Wynn, Julia; Taft, Ryan J; Kruszka, Paul; Caggana, Michele; Chung, Wendy K

A scalable approach for genomic-first rare disorder detection in a healthcare-based population

一种面向医疗保健人群的、可扩展的、以基因组为先导的罕见病检测方法

Torene, Rebecca I; Murphy, Karyn Meltz; Brandt, Tracy; Kelly, Melissa A; Willard, Huntington F; Retterer, Kyle

Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing

接受临床外显子组测序的儿童和青少年中与运动性言语表型相关的单基因疾病

Mitchel, Marissa W; Oetjens, Matthew; Berry, Alexander S F; Johns, Alicia; Moreno-De-Luca, Andrés; Torene, Rebecca I; Strande, Natasha T; DiStefano, Marina T; Dyer, Lindsay Havens; Brandt, Tracy; Finucane, Brenda M; Ledbetter, David H; Retterer, Kyle; Martin, Christa L; Myers, Scott M

MED13L-related disorder characterized by severe motor speech impairment

MED13L相关疾病,其特征为严重的运动性言语障碍

Mitchel, Marissa W; Turner, Stefanie; Walsh, Lauren K; Torene, Rebecca I; Myers, Scott M; Taylor, Cora M

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

对来自不同人群的 29,745 名发育障碍患者的常染色体隐性编码变异进行联合分析

Chundru, V Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J; Danecek, Petr; Eberhardt, Ruth Y; Gardner, Eugene J; Malawsky, Daniel S; Wigdor, Emilie M; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F; Ólafsdóttir, Hildur; Guillen Sacoto, Maria J; Ayaz, Akif; Akbeyaz, Ismail Hakki; Türkdoğan, Dilşad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; McWalter, Kirsty; Sheridan, Eamonn; Firth, Helen V; Hurles, Matthew E; Samocha, Kaitlin E; Ustach, Vincent D; Martin, Hilary C

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

对逃脱无义介导衰变机制的变异体进行系统分析,揭示了候选孟德尔疾病

Torene, Rebecca I; Guillen Sacoto, Maria J; Millan, Francisca; Zhang, Zhancheng; McGee, Stephen; Oetjens, Matthew; Heise, Elizabeth; Chong, Karen; Sidlow, Richard; O'Grady, Lauren; Sahai, Inderneel; Martin, Christa L; Ledbetter, David H; Myers, Scott M; Mitchell, Kevin J; Retterer, Kyle

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

多组学分析表明,神经发育程序与脑蛛网膜囊肿的发病机制有关。

Kundishora, Adam J; Allington, Garrett; McGee, Stephen; Mekbib, Kedous Y; Gainullin, Vladimir; Timberlake, Andrew T; Nelson-Williams, Carol; Kiziltug, Emre; Smith, Hannah; Ocken, Jack; Shohfi, John; Allocco, August; Duy, Phan Q; Elsamadicy, Aladine A; Dong, Weilai; Zhao, Shujuan; Wang, Yung-Chun; Qureshi, Hanya M; DiLuna, Michael L; Mane, Shrikant; Tikhonova, Irina R; Fu, Po-Ying; Castaldi, Christopher; López-Giráldez, Francesc; Knight, James R; Furey, Charuta G; Carter, Bob S; Haider, Shozeb; Moreno-De-Luca, Andres; Alper, Seth L; Gunel, Murat; Millan, Francisca; Lifton, Richard P; Torene, Rebecca I; Jin, Sheng Chih; Kahle, Kristopher T